DNAH9

DNAH9
Identifiers
Aliases	DNAH9 , DNAH17L, DNEL1, DYH9, Dnahc9, HL-20, HL20, dynein axonemal heavy chain 9, CILD40
External IDs	OMIM: 603330 MGI: 1289279 HomoloGene: 20357 GeneCards: DNAH9
Gene location (Human) Chr. Chromosome 17 (human) [1] Band 17p12 Start 11,598,470 bp [1] End 11,969,748 bp [1]
Gene location (Mouse) Chr. Chromosome 11 (mouse) [2] Band 11 B3|11 40.53 cM Start 65,722,108 bp [2] End 66,059,377 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right uterine tube bronchial epithelial cell sperm caudate nucleus secondary oocyte hypothalamus nucleus accumbens prefrontal cortex amygdala optic nerve Top expressed in secondary oocyte olfactory epithelium vestibular labyrinth visual cortex right lung lobe spermatid hippocampus proper pituitary gland seminiferous tubule superior frontal gyrus More reference expression data BioGPS More reference expression data
Gene ontology Molecular function microtubule motor activity nucleotide binding ATPase activity ATP binding cytoskeletal motor activity minus-end-directed microtubule motor activity dynein light chain binding dynein intermediate chain binding dynein light intermediate chain binding Cellular component cytoplasm axoneme cell projection cilium microtubule cytoskeleton dynein complex motile cilium 9+2 motile cilium distal portion of axoneme Biological process microtubule-based movement cell projection organization cilium movement Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 1770 237806 Ensembl ENSG00000007174 ENSMUSG00000056752 UniProt Q9NYC9 n/a RefSeq (mRNA) NM_001372 NM_004662 NM_001099633 RefSeq (protein) NP_001363 NP_004653 n/a Location (UCSC) Chr 17: 11.6 – 11.97 Mb Chr 11: 65.72 – 66.06 Mb PubMed search [3] [4]
Wikidata
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Dynein heavy chain 9, axonemal is a protein that in humans is encoded by the DNAH9 gene. ^{[5] [6] [7]}

This gene encodes the heavy chain subunit of axonemal dynein, a large multi-subunit molecular motor. Axonemal dynein attaches to microtubules and hydrolyzes ATP to mediate the movement of cilia and flagella. The gene expresses at least two transcript variants; additional variants have been described, but their full length nature has not been determined. ^[7]

References

1. GRCh38: Ensembl release 89: ENSG00000007174 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000056752 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Vaughan KT, Mikami A, Paschal BM, Holzbaur EL, Hughes SM, Echeverri CJ, Moore KJ, Gilbert DJ, Copeland NG, Jenkins NA, Vallee RB (Feb 1997). "Multiple mouse chromosomal loci for dynein-based motility". Genomics. 36 (1): 29–38. doi:10.1006/geno.1996.0422. PMID   8812413.
6. Bartoloni L, Blouin JL, Maiti AK, Sainsbury A, Rossier C, Gehrig C, She JX, Marron MP, Lander ES, Meeks M, Chung E, Armengot M, Jorissen M, Scott HS, Delozier-Blanchet CD, Gardiner RM, Antonarakis SE (Mar 2001). "Axonemal beta heavy chain dynein DNAH9: cDNA sequence, genomic structure, and investigation of its role in primary ciliary dyskinesia". Genomics. 72 (1): 21–33. doi:10.1006/geno.2000.6462. hdl: 2123/16163 . PMID   11247663.
7. "Entrez Gene: DNAH9 dynein, axonemal, heavy chain 9".

Further reading

• Milisav I, Jones MH, Affara NA (1996). "Characterization of a novel human dynein-related gene that is specifically expressed in testis". Mamm. Genome. 7 (9): 667–72. doi:10.1007/s003359900202. PMID   8703119. S2CID   30004271.
• Nagase T; Ishikawa K; Nakajima D; et al. (1997). "Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro". DNA Res. 4 (2): 141–50. doi: 10.1093/dnares/4.2.141 . PMID   9205841.
• Bartoloni L; Blouin J; Sainsbury AJ; et al. (1999). "Assignment of the human dynein heavy chain gene DNAH17L to human chromosome 17p12 by in situ hybridization and radiation hybrid mapping". Cytogenet. Cell Genet. 84 (3–4): 188–9. doi:10.1159/000015254. PMID   10393427. S2CID   1495548.
• Reed W; Carson JL; Moats-Staats BM; et al. (2001). "Characterization of an axonemal dynein heavy chain expressed early in airway epithelial ciliogenesis". Am. J. Respir. Cell Mol. Biol. 23 (6): 734–41. CiteSeerX   10.1.1.321.874 . doi:10.1165/ajrcmb.23.6.4045. PMID   11104725.
• Maiti AK; Mattéi MG; Jorissen M; et al. (2001). "Identification, tissue specific expression, and chromosomal localisation of several human dynein heavy chain genes". Eur. J. Hum. Genet. 8 (12): 923–32. doi: 10.1038/sj.ejhg.5200555 . PMID   11175280.
• Carson JL; Reed W; Lucier T; et al. (2002). "Axonemal dynein expression in human fetal tracheal epithelium". Am. J. Physiol. Lung Cell Mol. Physiol. 282 (3): L421–30. doi:10.1152/ajplung.00147.2001. PMID   11839535. S2CID   23922796.
• Strausberg RL; Feingold EA; Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi: 10.1073/pnas.242603899 . PMC   139241 . PMID   12477932.
• Ota T; Suzuki Y; Nishikawa T; et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi: 10.1038/ng1285 . PMID   14702039.
• Horváth J; Fliegauf M; Olbrich H; et al. (2005). "Identification and analysis of axonemal dynein light chain 1 in primary ciliary dyskinesia patients". Am. J. Respir. Cell Mol. Biol. 33 (1): 41–7. doi:10.1165/rcmb.2004-0335OC. PMID   15845866. S2CID   19776274.